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Gene: KRT10

Green List (high evidence)
KRT10 (keratin 10)
EnsemblGeneIds (GRCh38): ENSG00000186395
EnsemblGeneIds (GRCh37): ENSG00000186395
OMIM: 148080, Gene2Phenotype
KRT10 is in 7 panels

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Autosomal recessive congenital ichthyoses (ARCI) are lifelong skin disorders with generalized scaling and variable erythema that typically manifest at birth or early infancy.

(AD forms generally milder)

HGNC approved symbol: KRT10
Is the phenotype severe and early onset ,18yo? Y
Created: 23 Oct 2024, 2:54 a.m. | Last Modified: 23 Oct 2024, 2:54 a.m.
Panel Version: 1.470

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolytic hyperkeratosis 2B, autosomal recessive MIM#620707; MONDO:0700245

Publications

Created: 23 Oct 2024, 2:54 a.m.
Last Modified: 23 Oct 2024, 2:54 a.m.
Panel version: 1.470

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolytic hyperkeratosis 2B, autosomal recessive MIM#620707
  • MONDO:0700245
OMIM
148080
Clinvar variants
Variants in KRT10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: krt10 has been classified as Green List (High Evidence).

24 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KRT10 were changed from Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive to Epidermolytic hyperkeratosis 2B, autosomal recessive MIM#620707; MONDO:0700245

24 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KRT10 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KRT10 was added gene: KRT10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KRT10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive